Canonical Allele Identifier: CA366213481
Gene: ESR1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.151944416G>T , CM000668.2:g.151944416G>T GRCh38
NC_000006.11:g.152265551G>T , CM000668.1:g.152265551G>T GRCh37
NC_000006.10:g.152307244G>T NCBI36
NG_008493.1:g.258921G>T
NG_008493.2:g.292726G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000206249.8:c.1004G>T MANE Select ENSP00000206249.3:p.Arg335Ile
ENST00000638569.1:n.42+167G>T ENSP00000491412.1:p.=
ENST00000641399.1:n.332G>T
ENST00000206249.7:c.1004G>T ENSP00000206249.3:p.Arg335Ile
ENST00000338799.9:c.1004G>T ENSP00000342630.5:p.Arg335Ile
ENST00000406599.5:c.453-116575G>T ENSP00000384064.1:p.=
ENST00000415488.1:n.115+63645G>T ENSP00000401995.1:p.=
ENST00000427531.6:c.485G>T ENSP00000394721.2:p.Arg162Ile
ENST00000440973.5:c.1004G>T ENSP00000405330.1:p.Arg335Ile
ENST00000443427.5:c.1004G>T ENSP00000387500.1:p.Arg335Ile
ENST00000456483.3:c.*110+63645G>T ENSP00000415934.3:p.=
ENST00000482101.1:n.245G>T
NM_000125.3:c.1004G>T NP_000116.2:p.Arg335Ile
NM_001122740.1:c.1004G>T NP_001116212.1:p.Arg335Ile
NM_001122741.1:c.1004G>T NP_001116213.1:p.Arg335Ile
NM_001122742.1:c.1004G>T NP_001116214.1:p.Arg335Ile
NM_001291230.1:c.1010G>T NP_001278159.1:p.Arg337Ile
NM_001291241.1:c.1001G>T NP_001278170.1:p.Arg334Ile
XM_006715374.2:c.1004G>T XP_006715437.1:p.Arg335Ile
XM_006715375.2:c.485G>T XP_006715438.1:p.Arg162Ile
XM_011535543.1:c.1004G>T XP_011533845.1:p.Arg335Ile
XM_011535544.1:c.1004G>T XP_011533846.1:p.Arg335Ile
XM_011535545.1:c.1004G>T XP_011533847.1:p.Arg335Ile
XM_011535546.1:c.1004G>T XP_011533848.1:p.Arg335Ile
XM_011535547.1:c.1004G>T XP_011533849.1:p.Arg335Ile
XM_011535548.1:c.485G>T XP_011533850.1:p.Arg162Ile
XM_011535549.1:c.275G>T XP_011533851.1:p.Arg92Ile
NM_001328100.1:c.485G>T NP_001315029.1:p.Arg162Ile
XM_006715374.3:c.1004G>T XP_006715437.1:p.Arg335Ile
XM_006715375.3:c.485G>T XP_006715438.1:p.Arg162Ile
XM_011535543.2:c.1004G>T XP_011533845.1:p.Arg335Ile
XM_011535544.2:c.1004G>T XP_011533846.1:p.Arg335Ile
XM_011535545.2:c.1004G>T XP_011533847.1:p.Arg335Ile
XM_011535547.2:c.1004G>T XP_011533849.1:p.Arg335Ile
XM_011535549.2:c.275G>T XP_011533851.1:p.Arg92Ile
XM_017010376.1:c.1004G>T XP_016865865.1:p.Arg335Ile
XM_017010377.1:c.1004G>T XP_016865866.1:p.Arg335Ile
XM_017010378.1:c.1004G>T XP_016865867.1:p.Arg335Ile
XM_017010379.1:c.1004G>T XP_016865868.1:p.Arg335Ile
XM_017010380.1:c.1004G>T XP_016865869.1:p.Arg335Ile
XM_017010381.1:c.1004G>T XP_016865870.1:p.Arg335Ile
XM_017010382.2:c.347G>T XP_016865871.1:p.Arg116Ile
XM_017010383.1:c.215G>T XP_016865872.1:p.Arg72Ile
XR_001743223.2:n.1374G>T
XR_002956266.1:n.1374G>T
NM_000125.4:c.1004G>T MANE Select NP_000116.2:p.Arg335Ile
NM_001328100.2:c.485G>T NP_001315029.1:p.Arg162Ile
NM_001122740.2:c.1004G>T NP_001116212.1:p.Arg335Ile
NM_001122741.2:c.1004G>T NP_001116213.1:p.Arg335Ile
NM_001122742.2:c.1004G>T NP_001116214.1:p.Arg335Ile
NM_001291230.2:c.1010G>T NP_001278159.1:p.Arg337Ile
NM_001291241.2:c.1001G>T NP_001278170.1:p.Arg334Ile
NM_001385568.1:c.1004G>T NP_001372497.1:p.Arg335Ile
NM_001385569.1:c.1004G>T NP_001372498.1:p.Arg335Ile
NM_001385570.1:c.1004G>T NP_001372499.1:p.Arg335Ile
NM_001385571.1:c.1004G>T NP_001372500.1:p.Arg335Ile
NM_001385572.1:c.1004G>T NP_001372501.1:p.Arg335Ile